Research

Research on Tuberous Sclerosis Complex (TSC) focuses on its genetic basis, multi-organ manifestations, and the urgent need for coordinated, specialised care, with recent studies revealing care fragmentation and identifying biomarkers and genes linked to symptom severity, driving clinical trials for new treatments. Key research areas include understanding TAND (TSC-Associated Neuropsychiatric Disorders), improving diagnostic consistency, and developing networks of excellence for patient management.

Key International Publications

Clinical Practice Recommendations for Kidney Involvement in Tuberous Sclerosis Complex: A Consensus Statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
TAND Guidelines: International Consensus Recommendations for the Indentification and Treatment of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders
TSC Diagnostic Criteria, Surveillance and Management Recommendations

Key Publications in Ireland

Tuberous Sclerosis Complex (TSC) - Making the Invisible Visible: What are the Gaps in, Barriers to, and Facilitators of Access to Standardised Healthcare for Individuals with Tuberous Sclerosis Complex (TSC) in the Republic of Ireland?
Tuberous Sclerosis: A Rare Disease with an Orphan Complex
Widespread Service Fragmentation for Patients and Families with TSC in the Republic of Ireland
National Rare Disease Strategy 2025 - 2030

Research Information from TSC Organisations

TSC Alliance Resources Archive
TSC Alliance Diagnostic Criteria and Management Recommendations
TSC Alliance Navigation Guides
TAND Consortium Resources
Tuberous Sclerosis Association UK
Tuberous Sclerosis Australia

Research Information from Academia

PubMed: The primary database for searching peer-reviewed medical journal articles and summaries on TSC
National Institutes of Health (NIH): Scientists Use the NIH RePORTER Database to Find Federally Funded TSC Research Projects and Linked Publications
NIH NCBI Bookshelf: Hosts GeneReviews and Other Research
ScienceDirect
TSC Alliance: Natural History Databases:

How to Get Involved in Research

Leiden Open Variation Database (LOVD) (Tracks Gene Variants)
Epilepsy Associated Gene Ready Register (EAGER)
ReGarDs Register: Research Use of Diagnostic Genomic Testing Data for Epilepsy
The EpiFUN Study: Correlations Between Phenotype, Genotype and Functional Analysis in the (Neuro)Genetic Disorders of Childhood
CINDI Registry (Confirmed Genetic Diagnosis)